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The Journal of Heredity 1986:77(6):379-384
© 1986 The American Genetic Association 77:379-384

research-article

A mouse model for Niemann-Pick disease

Influence of genetic background on disease expression in spm/spm mice

Shigeki Miyawaki, Hirotsugu Yoshida, Sachihiko Mitsuoka, Hiroshi Enomoto, and Susumu Ikehara

The first four authors are affiliated with Research Laboratories, Nippon Shinyaku Co., Ltd., Sakanotsuji-cho, Oyake, Yamashina-ku, Kyoto 607, Japan. The last author is professor in the 1st Department of Pathology, Kansai Medical College, Fumizono-cho, Moriguchi-shi, Osaka 570, Japan. The authors are grateful to Dr. T. Kitagawa, professor in the Department of Pediatrics, Nihon University Hospital, for his technical advice concerning lipid and enzyme analyses, and to Dr. M. Murayama, director of the Research Laboratories, Nippon Shinyaku Co., Ltd., for his support and encouragement throughout this study.

Reprint requests should be addressed to Shigeki Miyawaki.

Abstract

Sphingomyelinosls (spm), an autosomal recessive mutation In mice originally occurred in the C57BL/KsJ Inbred strain. Spm/spm mice of this genetic background show striking hepatosplenomegaly with a marked accumulation of sphingomyelin and cholesterol due to a deficiency of sphingomyelinase. However, in spm/spm mice of C57BL/6J and DBA/2J backgrounds, hepatosplenomegaly was not pronounced in spite of marked elevation of hepatic lipid concentrations. The lifespan of C57BL/6J-spm/spm and DBA/2J-spm/spm mice was shorter than that of C57BL/KsJ-spm/spm mice. This appeared to be associated with the comparatively rapid rise in hepatic lipid concentrations, which In turn might be related to the absence of hepatomegaly. Histological study revealed the formation of massive foam cell clusters in the livers and spleens of C57BL/KsJ-spm/spm mice, whereas in the case of C57BL/6J-spm/spm and DBA/2J-spm/spm mice, diffusely scattered foam cells were found. These findings suggest that the functions of reticuloendothelial system (RES) play a crucial role in the development of hepatosplenomegaly in response to lipid accumulation.


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